Genotype Information

This section is used to record genes and variants for which a patient has been tested, and suggest possible causal genes based on the phenotypic profile entered in the Clinical Symptoms and Physical Findings and Prenatal and Perinatal History sections.

Genes can be manually added by clicking the “+ ADD GENE” button and entering the name of the investigated gene, which prompts matching OMIM gene suggestions to be displayed that can be selected from. The candidacy status, test strategy and patient-specific variants for that gene can be entered for each added gene.

To view suggested genes based on your patient’s phenotypic profile, click “SUGGESTED GENES”. Opening “SUGGESTED GENES” allows you to view matching genes in order of most to least likely. Click the phenotype terms in the yellow bar to disable their contribution to the gene search results. Deselect the automatically selected “Exclude Tested Negative and Rejected Candidate Genes”, on the right below the yellow bar, to see any genes in the suggested genes section that you’ve already manually input as negative or rejected.


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